Canonical Allele Identifier: CA2499214621

Gene: PEX10

Linked Data

• ClinVar Variation Id: 1073376
• ClinVar RCV Id: RCV001386364
• dbSNP Id: rs2100428385

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408558_2408568del , CM000663.2:g.2408558_2408568del	GRCh38
NC_000001.10:g.2339997_2340007del , CM000663.1:g.2339997_2340007del	GRCh37
NC_000001.9:g.2329857_2329867del	NCBI36
NG_008342.1:g.9006_9016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.486_496del	ENSP00000288774.3:p.Ala163ProfsTer?
ENST00000447513.7:c.486_496del MANE Select	ENSP00000407922.2:p.Ala163ProfsTer?
ENST00000650293.1:c.440_450del
ENST00000288774.7:c.486_496del	ENSP00000288774.3:p.Ala163ProfsTer?
ENST00000447513.6:c.486_496del	ENSP00000407922.2:p.Ala163ProfsTer?
ENST00000507596.5:c.486_496del	ENSP00000424291.1:p.Ala163ProfsTer?
ENST00000508384.5:c.54_64del	ENSP00000464289.1:p.Ala19ProfsTer?
ENST00000510434.1:c.486_496del	ENSP00000423051.1:p.Ala163ProfsTer?
NM_002617.3:c.486_496del	NP_002608.1:p.Ala163ProfsTer?
NM_153818.1:c.486_496del	NP_722540.1:p.Ala163ProfsTer?
XM_011541573.1:c.486_496del	XP_011539875.1:p.Ala163ProfsTer?
XM_011541574.1:c.54_64del	XP_011539876.1:p.Ala19ProfsTer?
XM_011541575.1:c.54_64del	XP_011539877.1:p.Ala19ProfsTer?
XM_011541576.1:c.486_496del	XP_011539878.1:p.Ala163ProfsTer?
XR_946666.1:n.606_616del
XM_011541576.2:c.486_496del	XP_011539878.1:p.Ala163ProfsTer?
XR_946666.2:n.555_565del
NM_001374425.1:c.486_496del	NP_001361354.1:p.Ala163ProfsTer?
NM_001374426.1:c.54_64del	NP_001361355.1:p.Ala19ProfsTer?
NM_001374427.1:c.54_64del	NP_001361356.1:p.Ala19ProfsTer?
NM_002617.4:c.486_496del MANE Select	NP_002608.1:p.Ala163ProfsTer?
NM_153818.2:c.486_496del	NP_722540.1:p.Ala163ProfsTer?
NR_164636.1:n.605_615del